Variant report

Variant	nsv873804
Chromosome Location	chr2:34156867-35047107
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2262)
CpG islands
(count:428)
Chromatin interactive
region (count:58)
LncRNA
region (count:66)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2262 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr2:34219179-34219275	K562	blood:	n/a	n/a
2	ATF1	chr2:34814574-34814687	K562	blood:	n/a	n/a
3	ATF1	chr2:35041098-35041398	K562	blood:	n/a	n/a
4	ATF2	chr2:34492233-34492695	GM12878	blood:	n/a	n/a
5	ATF2	chr2:34590863-34591498	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr2:34321987-34322130	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr2:34989249-34989315	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr2:34881803-34882061	GM12878	blood:	n/a	n/a
9	BATF	chr2:34516235-34516448	GM12878	blood:	n/a	n/a
10	BATF	chr2:34626250-34626627	GM12878	blood:	n/a	chr2:34626402-34626412 chr2:34626401-34626412
11	BATF	chr2:34492306-34492669	GM12878	blood:	n/a	chr2:34492484-34492495
12	BATF	chr2:34902415-34902679	GM12878	blood:	n/a	n/a
13	BATF	chr2:34626271-34626588	GM12878	blood:	n/a	chr2:34626402-34626412 chr2:34626401-34626412
14	BATF	chr2:34492248-34492667	GM12878	blood:	n/a	chr2:34492484-34492495
15	BATF	chr2:34902921-34903226	GM12878	blood:	n/a	n/a
16	BATF	chr2:34516238-34516504	GM12878	blood:	n/a	n/a
17	BATF	chr2:34902925-34903229	GM12878	blood:	n/a	n/a
18	BCL11A	chr2:34626351-34626529	GM12878	blood:	n/a	chr2:34626400-34626409 chr2:34626401-34626410
19	BCL11A	chr2:34492295-34492624	GM12878	blood:	n/a	n/a
20	BCL11A	chr2:34591088-34591422	H1-hESC	embryonic stem cell:	n/a	n/a
21	BCL3	chr2:34803709-34804015	GM12878	blood:	n/a	n/a
22	BCL3	chr2:34633212-34633509	GM12878	blood:	n/a	chr2:34633318-34633327 chr2:34633317-34633326
23	BCL3	chr2:34633202-34633571	GM12878	blood:	n/a	chr2:34633318-34633327 chr2:34633317-34633326
24	BHLHE40	chr2:34318851-34319200	GM12878	blood:	n/a	n/a
25	BHLHE40	chr2:34795688-34795858	GM12878	blood:	n/a	n/a
26	BHLHE40	chr2:34908833-34908941	GM12878	blood:	n/a	n/a
27	BHLHE40	chr2:34633159-34633448	GM12878	blood:	n/a	n/a
28	BHLHE40	chr2:34902255-34902723	GM12878	blood:	n/a	n/a
29	BHLHE40	chr2:34492074-34492695	GM12878	blood:	n/a	n/a
30	BHLHE40	chr2:34963851-34964109	GM12878	blood:	n/a	n/a
31	BHLHE40	chr2:35041520-35041884	HepG2	liver:	n/a	n/a
32	BHLHE40	chr2:35042118-35042381	HepG2	liver:	n/a	n/a
33	BHLHE40	chr2:34891473-34891834	GM12878	blood:	n/a	n/a
34	BHLHE40	chr2:34237938-34237989	K562	blood:	n/a	n/a
35	BHLHE40	chr2:34827333-34827668	GM12878	blood:	n/a	n/a
36	BHLHE40	chr2:34930671-34930923	GM12878	blood:	n/a	n/a
37	BRCA1	chr2:34321723-34321955	H1-hESC	embryonic stem cell:	n/a	n/a
38	CBX3	chr2:34744823-34745018	K562	blood:	n/a	n/a
39	CBX3	chr2:34435491-34435729	K562	blood:	n/a	n/a
40	CBX3	chr2:34435457-34435788	K562	blood:	n/a	n/a
41	CCNT2	chr2:34623370-34623530	K562	blood:	n/a	n/a
42	CEBPB	chr2:34651781-34652060	IMR90	lung:	n/a	chr2:34651953-34651964
43	CEBPB	chr2:34651784-34652054	A549	lung:	n/a	chr2:34651953-34651964
44	CEBPB	chr2:34960041-34960126	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPB	chr2:34390889-34391003	K562	blood:	n/a	n/a
46	CEBPB	chr2:34415049-34415217	H1-hESC	embryonic stem cell:	n/a	chr2:34415149-34415160
47	CEBPB	chr2:34736004-34736033	HepG2	liver:	n/a	chr2:34736017-34736028
48	CEBPB	chr2:34610850-34611138	MCF-7	breast:	n/a	chr2:34610999-34611008 chr2:34611030-34611038 chr2:34610997-34611010 chr2:34610999-34611008 chr2:34610999-34611008 chr2:34610997-34611010 chr2:34610999-34611008 chr2:34610997-34611008 chr2:34610997-34611010 chr2:34610998-34611009 chr2:34610997-34611008
49	CEBPB	chr2:34706655-34707006	MCF-7	breast:	n/a	chr2:34706794-34706805
50	CEBPB	chr2:34282589-34282874	HepG2	liver:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:34902113-34902163	HUVEC	blood vessel:	n/a
2	chr2:34902113-34902163	HUVEC	blood vessel:	n/a
3	chr2:34719565-34719615	Hela-S3	cervix:	n/a
4	chr2:34852273-34852323	Caco-2	colon:	n/a
5	chr2:34902113-34902163	HIPEpiC	eye:	n/a
6	chr2:34633637-34633687	HUVEC	blood vessel:	n/a
7	chr2:34720275-34720325	SAEC	small airway:	n/a
8	chr2:34590591-34590641	HCF	heart:	n/a
9	chr2:34719719-34719769	AG04450	lung:	fetal
10	chr2:34852273-34852323	MCF10A-Er-Src	breast:	n/a
11	chr2:34633637-34633687	BE2_C	brain:	n/a
12	chr2:34719565-34719615	NB4	blood:	n/a
13	chr2:34902113-34902163	PFSK-1	brain:	n/a
14	chr2:34902113-34902163	PANC-1	pancreas:	n/a
15	chr2:34719719-34719769	Hepatocyte	liver:	n/a
16	chr2:34902113-34902163	AG09319	gingival:	n/a
17	chr2:34902113-34902163	SK-N-MC	brain:	n/a
18	chr2:34720275-34720325	HRPEpiC	eye:	n/a
19	chr2:34719565-34719615	NHDF-neo	bronchial:	n/a
20	chr2:34719565-34719615	ovcar-3	ovarian:	n/a
21	chr2:34720275-34720325	K562	blood:	n/a
22	chr2:34719565-34719615	AoSMC	blood vessel:	n/a
23	chr2:34902113-34902163	HNPCEpiC	eye:	n/a
24	chr2:34719719-34719769	HEEpiC	esophagus:	n/a
25	chr2:34719719-34719769	SAEC	small airway:	n/a
26	chr2:34590591-34590641	A549	lung:	n/a
27	chr2:34720275-34720325	Hela-S3	cervix:	n/a
28	chr2:34590591-34590641	PFSK-1	brain:	n/a
29	chr2:34902113-34902163	HCF	heart:	n/a
30	chr2:34719565-34719615	AG09319	gingival:	n/a
31	chr2:34852273-34852323	HEEpiC	esophagus:	n/a
32	chr2:34902113-34902163	U87	brain:	n/a
33	chr2:34902113-34902163	HRCEpiC	kidney:	n/a
34	chr2:34633637-34633687	PrEC	prostate:	n/a
35	chr2:34633637-34633687	HMEC	breast:	n/a
36	chr2:34719565-34719615	SK-N-SH	brain:	n/a
37	chr2:34852273-34852323	AG10803	skin:	n/a
38	chr2:34719719-34719769	RPTEC	kidney:	n/a
39	chr2:34590591-34590641	Hepatocyte	liver:	n/a
40	chr2:34719565-34719615	HNPCEpiC	eye:	n/a
41	chr2:34720275-34720325	HCF	heart:	n/a
42	chr2:34719565-34719615	SK-N-MC	brain:	n/a
43	chr2:34719719-34719769	SK-N-SH_RA	brain:	n/a
44	chr2:34633637-34633687	PANC-1	pancreas:	n/a
45	chr2:34719719-34719769	IMR90	lung:	fetal
46	chr2:34852273-34852323	HRE	kidney:	n/a
47	chr2:34719565-34719615	HCT-116	colon:	n/a
48	chr2:34719719-34719769	HPAEpiC	pulmonary alveolar:	n/a
49	chr2:34902113-34902163	RPTEC	kidney:	n/a
50	chr2:34590591-34590641	SAEC	small airway:	n/a

(count:58 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:34520994..34523413-chr2:34524356..34526580,2	MCF-7	breast:
2	chr2:34253322..34256129-chr2:34261257..34263423,2	K562	blood:
3	chr2:34416041..34418842-chr2:34421357..34424092,2	K562	blood:
4	chr14:20811148..20811932-chr2:34244925..34245925,2	MCF-7	breast:
5	chr2:34237451..34238372-chr2:34321266..34322187,3	MCF-7	breast:
6	chr2:33906151..33906814-chr2:34795262..34796206,5	MCF-7	breast:
7	chr2:34334993..34337694-chr2:34340157..34342643,2	K562	blood:
8	chr2:34237581..34238416-chr2:34963443..34964247,2	MCF-7	breast:
9	chr2:34541264..34543781-chr2:34553502..34555371,2	MCF-7	breast:
10	chr2:35006274..35008792-chr8:67342394..67345182,2	MCF-7	breast:
11	chr10:124597456..124597958-chr2:34237773..34238411,2	MCF-7	breast:
12	chr2:34321239..34322372-chr2:34772370..34773083,4	MCF-7	breast:
13	chr2:34324491..34327338-chr2:34327561..34329321,2	MCF-7	breast:
14	chr2:34160770..34163344-chr2:34168919..34171059,2	K562	blood:
15	chr14:20810431..20812269-chr2:34245445..34246945,2	MCF-7	breast:
16	chr2:34707651..34709954-chr2:34710435..34712219,2	MCF-7	breast:
17	chr2:34469910..34471896-chr2:34475795..34477495,2	MCF-7	breast:
18	chr2:34321381..34322557-chr2:34795669..34796275,5	MCF-7	breast:
19	chr2:34237506..34238447-chr2:34795265..34796658,5	MCF-7	breast:
20	chr2:34469910..34471896-chr2:34475795..34477495,2	MCF-7	breast:
21	chr17:57969237..57970939-chr2:34675539..34678526,2	MCF-7	breast:
22	chr2:34401156..34402823-chr2:34426410..34428532,2	K562	blood:
23	chr2:34876891..34879240-chr2:34886043..34888561,2	K562	blood:
24	chr2:34237581..34238416-chr2:34963443..34964247,2	MCF-7	breast:
25	chr2:34416041..34418842-chr2:34421357..34424092,2	K562	blood:
26	chr2:34636657..34638446-chr2:34644514..34646250,2	K562	blood:
27	chr2:34437642..34440323-chr2:34446994..34448643,2	K562	blood:
28	chr2:34401156..34402823-chr2:34426410..34428532,2	K562	blood:
29	chr2:34590795..34592507-chr2:34600278..34603033,2	K562	blood:
30	chr2:34321381..34322557-chr2:34795669..34796275,5	MCF-7	breast:
31	chr2:34253322..34256129-chr2:34261257..34263423,2	K562	blood:
32	chr2:34707651..34709954-chr2:34710435..34712219,2	MCF-7	breast:
33	chr2:34520994..34523413-chr2:34524356..34526580,2	MCF-7	breast:
34	chr2:34795663..34796225-chr8:85142407..85143298,2	MCF-7	breast:
35	chr2:34929052..34931868-chr2:34933062..34935710,2	K562	blood:
36	chr2:34334993..34337694-chr2:34340157..34342643,2	K562	blood:
37	chr2:34237421..34238380-chr2:35339556..35340362,2	MCF-7	breast:
38	chr2:34160770..34163344-chr2:34168919..34171059,2	K562	blood:
39	chr2:34237506..34238447-chr2:34795265..34796658,5	MCF-7	breast:
40	chr2:34636657..34638446-chr2:34644514..34646250,2	K562	blood:
41	chr2:34451708..34454413-chr2:34493747..34495311,2	K562	blood:
42	chr2:34237681..34238401-chr2:34795339..34796232,5	MCF-7	breast:
43	chr2:34590795..34592507-chr2:34600278..34603033,2	K562	blood:
44	chr2:33906087..33906631-chr2:34321375..34322022,2	MCF-7	breast:
45	chr2:34541264..34543781-chr2:34553502..34555371,2	MCF-7	breast:
46	chr2:34624209..34626557-chr2:34688886..34690644,2	K562	blood:
47	chr2:34437642..34440323-chr2:34446994..34448643,2	K562	blood:
48	chr2:34451708..34454413-chr2:34493747..34495311,2	K562	blood:
49	chr2:34237451..34238372-chr2:34321266..34322187,3	MCF-7	breast:
50	chr17:41466170..41467868-chr2:34623111..34624611,2	MCF-7	breast:

(count:66 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASGRP3-4	chr2:34929778-34929989	ENSG00000228262.4
2	lnc-FAM98A-7	chr2:34787656-34787849	NONHSAT070038
3	lnc-RASGRP3-4	chr2:34960145-34960753	ENSG00000228262.4
4	lnc-FAM98A-7	chr2:34823138-34823205	NONHSAT070038
5	lnc-RASGRP3-2	chr2:34292293-34292370	XLOC_001422
6	lnc-RASGRP3-2	chr2:34293281-34293347	XLOC_001422
7	lnc-RASGRP3-4	chr2:34962388-34962638	ENSG00000228262.4
8	lnc-RASGRP3-5	chr2:35042159-35042319	XLOC_001426
9	lnc-RASGRP3-1	chr2:34285817-34285994	ENSG00000203386
10	lnc-RASGRP3-2	chr2:34284362-34284586	NONHSAT070031
11	lnc-RASGRP3-4	chr2:34962388-34963298	ENSG00000228262
12	lnc-RASGRP3-15	chr2:34909934-34910063	NONHSAT070041
13	lnc-RASGRP3-3	chr2:34609584-34609796	NONHSAT070034
14	lnc-RASGRP3-13	chr2:34462359-34462780	NONHSAT070033
15	lnc-RASGRP3-2	chr2:34288818-34293939	NONHSAT070031
16	lnc-RASGRP3-4	chr2:34947066-34947186	ENSG00000228262.4
17	lnc-RASGRP3-1	chr2:34511710-34511813	ENSG00000203386
18	lnc-RASGRP3-4	chr2:34938657-34938840	ENSG00000228262
19	lnc-RASGRP3-14	chr2:34792150-34792344	NONHSAT070037
20	lnc-RASGRP3-4	chr2:34947066-34947580	ENSG00000228262.4
21	lnc-RASGRP3-4	chr2:34947066-34947188	ENSG00000228262.4
22	lnc-RASGRP3-13	chr2:34463088-34463140	NONHSAT070033
23	lnc-RASGRP3-1	chr2:34286086-34286114	ENSG00000203386
24	lnc-RASGRP3-14	chr2:34756150-34756498	NONHSAT070037
25	lnc-RASGRP3-14	chr2:34792147-34792344	l_1807_chr2:34789043-34803561_liver
26	lnc-RASGRP3-1	chr2:34522535-34522820	ENSG00000203386
27	lnc-RASGRP3-4	chr2:34957515-34957624	ENSG00000228262
28	lnc-RASGRP3-4	chr2:34935518-34935580	NONHSAT070045
29	lnc-RASGRP3-3	chr2:34511701-34511813	NONHSAT070034
30	lnc-RASGRP3-3	chr2:34860316-34860407	ENSG00000226785
31	lnc-RASGRP3-4	chr2:34938657-34938840	ENSG00000228262.4
32	lnc-RASGRP3-4	chr2:34962148-34962183	NONHSAT070048
33	lnc-FAM98A-8	chr2:34919267-34919365	ENSG00000272027.1
34	lnc-RASGRP3-14	chr2:34789044-34789084	l_1807_chr2:34789043-34803561_liver
35	lnc-RASGRP3-2	chr2:34294166-34294617	XLOC_001422
36	lnc-RASGRP3-3	chr2:34609584-34609636	ENSG00000226785
37	lnc-RASGRP3-13	chr2:34713820-34713911	NONHSAT070033
38	lnc-RASGRP3-14	chr2:34811019-34811128	NONHSAT070039
39	lnc-CRIM1-1	chr2:35024917-35024966	XLOC_001425
40	lnc-RASGRP3-4	chr2:34978401-34978447	NONHSAT070051
41	lnc-RASGRP3-4	chr2:34938646-34938840	NONHSAT070045
42	lnc-RASGRP3-4	chr2:34938646-34938840	ENSG00000228262.4
43	lnc-FAM98A-2	chr2:34962148-34962185	ENSG00000232153
44	lnc-RASGRP3-4	chr2:34956433-34956605	ENSG00000228262.4
45	lnc-RASGRP3-4	chr2:34938646-34938840	ENSG00000228262.4
46	lnc-RASGRP3-4	chr2:34959627-34961285	NONHSAT070048
47	lnc-RASGRP3-14	chr2:34800570-34803561	l_1807_chr2:34789043-34803561_liver
48	lnc-RASGRP3-14	chr2:34792161-34792344	NONHSAT070039
49	lnc-RASGRP3-3	chr2:34608855-34609276	ENSG00000226785
50	lnc-RASGRP3-5	chr2:35041549-35041945	XLOC_001426

No data

Variant related genes	Relation type
ENSG00000212025	TF binding region
ENSG00000226785	TF binding region
ENSG00000272027	TF binding region
ENSG00000232153	TF binding region
ENSG00000228262	TF binding region
ENSG00000226994	TF binding region
ENSG00000237790	TF binding region
RN7SL602P	TF binding region
ENSG00000212025	CpG island
ENSG00000226785	CpG island
ENSG00000272027	CpG island
ENSG00000232153	CpG island
ENSG00000228262	CpG island
ENSG00000226994	CpG island
ENSG00000237790	CpG island
RN7SL602P	CpG island
ENSG00000258096	chromatin interactions
ENSG00000108443	chromatin interactions
ENSG00000108423	chromatin interactions
ENSG00000138161	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000134294	chromatin interactions
ENSG00000108669	chromatin interactions
ENSG00000228262	chromatin interactions
ENSG00000259001	chromatin interactions
ENSG00000147576	chromatin interactions
ENSG00000129484	chromatin interactions
NAP1L1	miRNA target sites

Extended variants
information (count: 16090 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:16090 , 50 per page) page: 1 2 3 4 5 6 7 ... 322

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570756542	chr2:34169536-34169537	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs145100011	chr2:34169551-34169552	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs542528369	chr2:34169597-34169598	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs13427776	chr2:34169616-34169617	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs61455409	chr2:34183602-34183603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200093379	chr2:34183603-34183604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572377686	chr2:34183604-34183605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147872509	chr2:34183605-34183606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12611527	chr2:34183606-34183607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs151065710	chr2:34183685-34183686	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs367954350	chr2:34183706-34183707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544079015	chr2:34183754-34183755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs13421785	chr2:34183756-34183757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs577013687	chr2:34183793-34183794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140787292	chr2:34183803-34183804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572874986	chr2:34183806-34183807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1559645	chr2:34183840-34183841	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs75853933	chr2:34183852-34183853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs562060623	chr2:34183858-34183859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111525078	chr2:34183881-34183882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs377308528	chr2:34183957-34183958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs13408551	chr2:34183962-34183963	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs528539245	chr2:34183963-34183964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570267570	chr2:34183970-34183971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144839940	chr2:34183981-34183982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs79048794	chr2:34183982-34183983	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566028453	chr2:34183987-34183988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147926207	chr2:34184006-34184007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554665267	chr2:34184010-34184011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs185835053	chr2:34184022-34184023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537692192	chr2:34184030-34184031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557607955	chr2:34184051-34184052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs577476857	chr2:34184065-34184066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs72783226	chr2:34184083-34184084	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs141889940	chr2:34184101-34184102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560166218	chr2:34184102-34184103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373353877	chr2:34184170-34184171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs75382295	chr2:34184174-34184175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569902868	chr2:34184189-34184190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs35687904	chr2:34208608-34208609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114141969	chr2:34208624-34208625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs183953835	chr2:34208631-34208632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546854912	chr2:34208635-34208636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144802437	chr2:34208637-34208638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535639671	chr2:34208697-34208698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7561099	chr2:34208720-34208721	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs73926826	chr2:34208726-34208727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78783673	chr2:34208805-34208806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs7561205	chr2:34208809-34208810	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs577148429	chr2:34208816-34208817	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD
early-passage human iPS cells	21368824	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Incontinentia Pigmenti	22033527	CNVD
Alcoholism	22295116	CNVD
Medulloblastoma	21163964	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:812 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34183600-34184200	Enhancers	Fetal Brain Female	brain
2	chr2:34208600-34209200	Enhancers	Fetal Brain Male	brain
3	chr2:34212400-34212800	Enhancers	Placenta	Placenta
4	chr2:34222400-34222600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:34222600-34223000	ZNF genes & repeats	Pancreas	Pancrea
6	chr2:34228200-34228600	Enhancers	Brain Cingulate Gyrus	brain
7	chr2:34228600-34229000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:34228800-34229000	Enhancers	Brain Germinal Matrix	brain
9	chr2:34228800-34229000	Enhancers	Brain Hippocampus Middle	brain
10	chr2:34228800-34229000	Enhancers	Brain Substantia Nigra	brain
11	chr2:34228800-34229200	Enhancers	Brain Anterior Caudate	brain
12	chr2:34229000-34229200	Enhancers	Brain Cingulate Gyrus	brain
13	chr2:34229000-34229600	Weak transcription	Brain Substantia Nigra	brain
14	chr2:34229000-34230200	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr2:34229000-34231400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr2:34229200-34229800	Weak transcription	Brain Anterior Caudate	brain
17	chr2:34229200-34230000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr2:34229600-34231400	Enhancers	Brain Substantia Nigra	brain
19	chr2:34229800-34230000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:34229800-34230000	Active TSS	Brain Hippocampus Middle	brain
21	chr2:34229800-34230400	Active TSS	Brain Angular Gyrus	brain
22	chr2:34229800-34230400	Active TSS	Brain Anterior Caudate	brain
23	chr2:34229800-34230400	Active TSS	Brain Germinal Matrix	brain
24	chr2:34229800-34231400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:34230000-34230200	Active TSS	Brain Cingulate Gyrus	brain
26	chr2:34230000-34230400	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr2:34230000-34230400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:34230000-34230400	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr2:34230000-34230400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:34230200-34230400	Flanking Active TSS	Brain Cingulate Gyrus	brain
31	chr2:34230200-34230600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr2:34230400-34230600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:34230400-34231000	Enhancers	Brain Anterior Caudate	brain
34	chr2:34230400-34231200	Enhancers	Brain Angular Gyrus	brain
35	chr2:34230400-34231200	Enhancers	Brain Germinal Matrix	brain
36	chr2:34230400-34231400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:34230400-34231400	Enhancers	Brain Cingulate Gyrus	brain
38	chr2:34230400-34231600	Enhancers	Brain Hippocampus Middle	brain
39	chr2:34230600-34231200	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr2:34236800-34237800	Enhancers	Fetal Lung	lung
41	chr2:34237400-34237800	Enhancers	Brain Hippocampus Middle	brain
42	chr2:34237400-34237800	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr2:34237400-34238200	Enhancers	Fetal Stomach	stomach
44	chr2:34237600-34238200	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr2:34237600-34238200	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr2:34237600-34238200	Enhancers	Brain Anterior Caudate	brain
47	chr2:34237600-34238200	Enhancers	Brain Cingulate Gyrus	brain
48	chr2:34237600-34238200	Enhancers	Fetal Kidney	kidney
49	chr2:34237600-34238200	Enhancers	Rectal Smooth Muscle	rectum
50	chr2:34237800-34238200	Enhancers	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links